Cckbr - SNV Details



 Gene Information 
Gene Name Cckbr
Gene Description cholecystokinin B receptor [Source:MGI Symbol;Acc:MGI:99479]
MGI phenotype Mice homozygous for a knock-out allele exhibit abnormal gastric glands, increased stomach pH, increased circulating gastrin levels, abnormal anxiety behaviors, impaired mechanical nociception, and abnormal iron homeostasis.
Uniprot Name
CCDS Name
Gene GO
positive regulation of synaptic transmission
glutamatergic; membrane; integral to membrane; apoptotic process; cytoplasm; regulation of sensory perception of pain; elevation of cytosolic calcium ion concentration; ERK1 and ERK2 cascade; estrous cycle phase; protein binding; type B gastrin/cholecystokinin receptor binding; gastrin receptor activity; nucleus; histamine secretion; digestion; G-protein coupled receptor signaling pathway; positive regulation of synaptic transmission
GABAergic; plasma membrane; response to insulin stimulus; positive regulation of somatostatin secretion; positive regulation of cell proliferation; behavioral defense response
Homolog in other species CCKBR
Omim http://omim.org/entry/118445
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030898
Chromosome 7
Coordinate 105,434,086     (Assembly: GRCm38)    
Ref Base G
Codon Change tgG/tgT
Var Base T
Zygosity Heterozygous
Read Depth 14
Allele Frequency
G:R0.36
T:V0.64
Amino Acid Position 165
Amino Acid Change W->C (Tryptophan -> Cysteine)
Sample ID IGL01630
Median Base Quality 35.5
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000033189:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
G protein-coupled receptor, rhodopsin-like GPCR_Rhodpsn IPR000276 ENSMUSP00000033189 Pfam 71
396 Description available Search pathways
GPCR, rhodopsin-like, 7TM GPCR_Rhodpsn_7TM IPR017452 ENSMUSP00000033189 Prosite_profiles 71
396 Description available Search pathways

 Availability Details 
Availability Cryopreserved